Variant (rsID / SNP)

rs61752093

rs61752093 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PEX10. Location: chromosome 1, position 2,338,020. Clinical significance in the table: Pathogenic.

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Reference-table entries

PEX10Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 1:2338020
Cytoband: 1p36.32
HGVS: NM_002617.4(PEX10):c.814_815del (p.Leu272fs)

Associated conditions / phenotypes

Peroxisome biogenesis disorder 6B|Peroxisome biogenesis disorder 6A (Zellweger)|Peroxisome biogenesis disorder|Peroxisome biogenesis disorder, complementation group 7|Zellweger spectrum disorders

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.